The Expert Center for Complement-Mediated Rare Diseases

The establishment of the Expert Centre for Complement-Mediated Rare Diseases (Centre d'expertise sur les maladies rares médiées par le complement) is a translational research initiative out of CHU Sainte-Justine aiming to transform the understanding, diagnosis, and treatment of complement-mediated diseases.

Complement-mediated diseases are rare but serious conditions that can cause significant tissue and organ damage, especially to the kidneys. Early recognition and treatment of these conditions is crucial to slow the progression. Yet, there are currently few solutions for the diagnosis, treatment, and care of complement diseases in Canada. By integrating clinical and research activities, the centre will address key issues in the diagnosis, treatment, and care of complement diseases in Canada.

The Expert Centre for Complement-Mediated Rare Diseases will be able to contribute to significant advancements by:

• Facilitating collaborative research, fundamental research, clinical trials, and biobanking
• Developing new in-house and commercial diagnostic and therapeutic approaches
• Participating in international partnerships, collaboration, and knowledge sharing with congress and conferences
• Advancing the understanding and knowledge of rare complement-mediated diseases
• Developing best practices, standardized protocols, resources, and data to guide clinicians nation-wide
• Raising awareness and education of complement-mediated diseases among both healthcare professionals and patients

The launch of the centre is made possible through the funding of its first major project – the development of new tools for the diagnosis and monitoring of complement-mediated diseases. This project is funded through CQDM’s Quantum Leap Program which is dedicated to supporting the development of innovative research from Canadian researchers in collaboration with biopharmaceutical companies. Additional support for this project includes funds from Alexion Pharma Canada Corporation, the Government of Quebec (through CQDM), the CHU Sainte-Justine Foundation (CHUSJ), and The Kidney Foundation of Canada (KFOC).

Read more about the launch of Expert Centre for Complement-Mediated Rare Diseases at: https://research.chusj.org/en/Communications/Nouvelles/2025/Lancement-du-Centre-d-expertise-sur-les-maladies-r

What are Complement-Mediated Diseases?

• Complement-mediated disease are rare conditions that arise from changes in proteins of the complement system.
• The complement system is part of the immune system and enhances (or complements) the processes of the immune system.
• Changes in the complement system make it so that the immune system cannot adequately perform key functions, like protection from infection and the removal of damaged cells.
• Changes in the complement system can increase inflammation in the body which further damages cells, tissues, and organs. This can result in serious health problems, like kidney disease (among others).

Project Summary

A primary goal within the first two years of the centre is the development of new tools for diagnosing and monitoring thrombotic microangiopathy (TMA) and other complement diseases.

TMA is a rare but serious complement disease where tiny blood vessels in the body become damaged, often leading to kidney failure. Being able to diagnosis TMA early and start treatment is critical to ensure the progression of organ damage is reduced. This project hopes to provide comprehensive and precise diagnostic and management tools to improve the medical journey of TMA patients in Canada.

The objective of the project is to create a panel of specific biomarkers (biological signals) that can provide comprehensive and precise results from a blood sample. To do this, they will focus on both signals from biomarkers in the blood as well as signals on cells from the lining of blood vessels. This will provide a two-prong approach that ensures accuracy without the need for an invasive kidney biopsy.

In summary, carrying out this project will result in:

• Diagnostic tools that diagnose and inform clinical care based on the specific presentation of a patient.
• In-house and commercial tools for diagnosis and disease monitoring.
• Advanced knowledge and understanding of TMA and complement-mediated diseases.

Overall, the development of these tools will allow for faster diagnoses, earlier treatments, and better patient care, as well as reduced costs for the healthcare system by having specialized diagnostic tests available in Canada.

“The creation of the Expert Centre for Complement-Mediated Rare Diseases represents a transformative step for patients living with complement-mediated diseases, including thrombotic microangiopathies (TMA) and complement-mediated kidney disorders… This Center will not only accelerate diagnosis and enable more targeted therapies but also establish the research infrastructure needed to discover new biomarkers, validate non-invasive tests, and fuel future innovation. Our bold ambition is to halt the progression of complement-mediated diseases before they cause irreversible organ damage—particularly preventing the need for dialysis or kidney transplantation in patients with complement-mediated kidney disease—offering patients real hope for a healthier future.” – Dr. Alexandra Cambier, project lead.

You can learn more about the Expert Centre for Complement-Mediated Rare Diseases and the work being done at https://nephrontees.com/.

Project Investigators

• Alexandra Cambier, CHU Sainte Justine (Principal Investigator)
• Anne-Laure Lapeyraque, CHU Sainte Justine (co-Principal investigator)
• Arnaud Bonnefoy, CHU Sainte Justine (co-Principal investigator)
• Sandrine Thouzeau-Benghezal, CHU Sainte Justine (co-Investigator)
• Claire Sandor, Diagnostics lead for Alexion
• Fabien Morin, Commercial lead for Alexion
• Ronan Rogers, Medical lead for Alexion

Project Partners

Funding Partners:

• CQDM
• CHU Sainte-Justine Foundation (CHUSJ)
• The Kidney Foundation of Canada (KFOC)

Industry Partner:

• Alexion Pharmaceuticals, Inc.